Mutagenetix > Incidental Mutation

Incidental Mutation 'R6920:Aadat'

539582

Institutional Source

Beutler Lab

Gene Symbol

Aadat

Ensembl Gene

ENSMUSG00000057228

Gene Name

aminoadipate aminotransferase

Synonyms

KATII, Kat2, mKat-2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6920 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60505932-60545677 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60529433 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 245 (F245L)

Ref Sequence

ENSEMBL: ENSMUSP00000148060 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079472] [ENSMUST00000209338]

AlphaFold

Q9WVM8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079472
AA Change: F238L

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000078436
Gene: ENSMUSG00000057228
AA Change: F238L

Domain	Start	End	E-Value	Type
Pfam:Aminotran_1_2	64	417	2.6e-22	PFAM
Pfam:Aminotran_MocR	124	424	7.6e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000209338
AA Change: F245L

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.2%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is highly similar to mouse and rat kynurenine aminotransferase II. The rat protein is a homodimer with two transaminase activities. One activity is the transamination of alpha-aminoadipic acid, a final step in the saccaropine pathway which is the major pathway for L-lysine catabolism. The other activity involves the transamination of kynurenine to produce kynurenine acid, the precursor of kynurenic acid which has neuroprotective properties. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
PHENOTYPE: Homozygous null mice are viable and display earlier eye opening and development of air righting and open field crossing responses, and transient hyperactivity and neuronal abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	T	3: 138,068,050	Y1000F	probably damaging	Het
1700018B08Rik	A	G	8: 121,535,421		probably null	Het
Adcy10	T	G	1: 165,575,658	L1575W	probably damaging	Het
Anks4b	A	T	7: 120,183,008	T421S	probably damaging	Het
Anpep	A	T	7: 79,825,349	I155N	probably damaging	Het
Arnt	T	C	3: 95,490,621	F572L	probably damaging	Het
Brip1	G	A	11: 86,148,536	Q391*	probably null	Het
Brpf3	C	A	17: 28,823,996	H1004N	probably benign	Het
Cand2	T	A	6: 115,791,289	V465D	possibly damaging	Het
Card10	G	T	15: 78,802,409	Y69*	probably null	Het
Catsperd	A	T	17: 56,655,175	K450*	probably null	Het
Ccdc137	T	C	11: 120,460,183	L137P	probably damaging	Het
Cic	T	C	7: 25,290,682	S1905P	probably damaging	Het
Csmd3	C	T	15: 47,644,205	G2971S	probably damaging	Het
Dmxl2	A	G	9: 54,472,212	Y183H	probably damaging	Het
Drosha	T	C	15: 12,834,310	Y167H	unknown	Het
E330034G19Rik	A	G	14: 24,308,242	K214R	unknown	Het
Fam180a	T	G	6: 35,313,830	I73L	possibly damaging	Het
Fbxo28	G	T	1: 182,341,421	H51N	probably benign	Het
Gm12728	T	G	4: 105,790,336		probably null	Het
Gm973	T	C	1: 59,552,461	C335R	possibly damaging	Het
Gpx8	A	G	13: 113,043,236	V177A	probably damaging	Het
Hdlbp	A	G	1: 93,412,361		probably null	Het
Htt	T	G	5: 34,877,100	Y1972D	probably null	Het
Igkv6-14	T	C	6: 70,435,132	Y56C	possibly damaging	Het
Kcnma1	A	G	14: 23,526,534		probably null	Het
Klc1	T	C	12: 111,787,585	S105P	probably damaging	Het
Klhl20	T	C	1: 161,093,696	D63G	possibly damaging	Het
Lamc3	A	G	2: 31,908,689	D469G	probably damaging	Het
Lrit1	G	C	14: 37,060,095	V242L	probably damaging	Het
Mboat4	G	A	8: 34,124,711	R434H	probably benign	Het
Mttp	T	C	3: 138,115,282	K270E	possibly damaging	Het
Muc5ac	G	A	7: 141,793,298	C337Y	possibly damaging	Het
Nars	A	G	18: 64,501,400	V484A	probably damaging	Het
Noxa1	G	T	2: 25,091,832		probably null	Het
Olfr297	A	G	7: 86,527,314	T186A	probably benign	Het
Olfr830	T	A	9: 18,875,525	L63H	probably damaging	Het
Osbpl7	G	A	11: 97,050,758	G36S	probably damaging	Het
P4htm	C	T	9: 108,583,613	G220D	probably benign	Het
Pcdhga7	A	G	18: 37,715,146	I69V	probably benign	Het
Pla2g4e	C	T	2: 120,185,314	E250K	possibly damaging	Het
Plcd4	A	G	1: 74,565,835		probably benign	Het
Ppfia3	C	A	7: 45,358,807	G213V	possibly damaging	Het
Ppp1r1a	A	G	15: 103,533,086	S67P	probably damaging	Het
Prss43	T	C	9: 110,828,612	F193S	probably benign	Het
Rfx1	A	G	8: 84,095,488	Y872C	probably damaging	Het
Rhot1	T	A	11: 80,242,095	N218K	probably benign	Het
Sall1	A	G	8: 89,030,393	F1028L	probably damaging	Het
Siglec1	G	A	2: 131,078,077	Q845*	probably null	Het
Slc38a9	C	T	13: 112,701,526	T275I	possibly damaging	Het
Slc39a4	A	T	15: 76,613,270	S481T	probably damaging	Het
Ssr1	A	T	13: 37,986,022	N191K	probably damaging	Het
Tenm4	A	T	7: 96,895,550	S2258C	probably damaging	Het
Tm7sf3	T	G	6: 146,606,147	R472S	possibly damaging	Het
Tmprss11a	G	A	5: 86,428,635	T119M	probably benign	Het
Traip	C	T	9: 107,961,041	R142*	probably null	Het
Utrn	T	C	10: 12,750,470	N100D	probably damaging	Het
Vmn1r74	T	C	7: 11,847,648	S292P	probably benign	Het
Vmn2r71	A	T	7: 85,623,900	I641F	probably damaging	Het
Vmn2r9	T	A	5: 108,849,046	Y119F	possibly damaging	Het
Vmn2r98	A	G	17: 19,065,248	N110S	probably damaging	Het
Vwce	A	G	19: 10,664,693	T928A	probably benign	Het
Zfp608	T	A	18: 54,988,265	K83N	probably damaging	Het
Zfp808	A	G	13: 62,173,168	H737R	probably benign	Het
Zswim4	T	C	8: 84,214,085	N795S	probably benign	Het

Other mutations in Aadat

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00822:Aadat	APN	8	60535758	missense	probably benign	0.11
IGL01123:Aadat	APN	8	60526614	missense	probably benign	0.14
IGL01524:Aadat	APN	8	60516072	missense	probably damaging	0.97
IGL01767:Aadat	APN	8	60507092	missense	probably damaging	0.96
IGL02824:Aadat	APN	8	60516022	missense	probably benign	0.01
IGL03150:Aadat	APN	8	60543562	missense	probably damaging	0.97
IGL03356:Aadat	APN	8	60531691	missense	probably damaging	1.00
R0015:Aadat	UTSW	8	60534571	splice site	probably benign
R0294:Aadat	UTSW	8	60534608	missense	possibly damaging	0.77
R0533:Aadat	UTSW	8	60531763	splice site	probably benign
R0631:Aadat	UTSW	8	60529445	splice site	probably benign
R1585:Aadat	UTSW	8	60526680	missense	possibly damaging	0.67
R1728:Aadat	UTSW	8	60526712	missense	probably damaging	1.00
R1729:Aadat	UTSW	8	60526712	missense	probably damaging	1.00
R2051:Aadat	UTSW	8	60507139	missense	probably benign	0.00
R2362:Aadat	UTSW	8	60532298	splice site	probably benign
R3971:Aadat	UTSW	8	60518581	missense	probably damaging	1.00
R4126:Aadat	UTSW	8	60531669	missense	probably benign	0.00
R4736:Aadat	UTSW	8	60540106	missense	probably benign	0.30
R4739:Aadat	UTSW	8	60540106	missense	probably benign	0.30
R4750:Aadat	UTSW	8	60526600	missense	probably benign	0.10
R4874:Aadat	UTSW	8	60516113	critical splice donor site	probably null
R4884:Aadat	UTSW	8	60526629	missense	probably damaging	1.00
R5233:Aadat	UTSW	8	60526622	missense	probably benign	0.01
R5367:Aadat	UTSW	8	60526596	missense	probably damaging	1.00
R7064:Aadat	UTSW	8	60531712	missense	probably damaging	1.00
R7194:Aadat	UTSW	8	60526622	missense	probably benign	0.01
R7316:Aadat	UTSW	8	60526634	missense	probably damaging	0.98
R7634:Aadat	UTSW	8	60516068	missense	probably benign	0.09
R8672:Aadat	UTSW	8	60506145	unclassified	probably benign
R8711:Aadat	UTSW	8	60516086	missense	probably benign	0.01
R8803:Aadat	UTSW	8	60545256	missense	probably benign	0.14
R8919:Aadat	UTSW	8	60540124	missense	possibly damaging	0.94
R9204:Aadat	UTSW	8	60543532	missense	possibly damaging	0.90
R9207:Aadat	UTSW	8	60526623	missense	probably damaging	1.00
R9313:Aadat	UTSW	8	60526601	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- CCACCCTCGATGTTTGGAATAAG -3'
(R):5'- AATGCACGTCTCAGAGAACTAGAG -3'

Sequencing Primer
(F):5'- CCCTCGATGTTTGGAATAAGAGGAAC -3'
(R):5'- TCTCAGAGAACTAGAGATCCTAAAAG -3'

Posted On

2018-11-06